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There is limited information known about how women with pathogenic variants (PV) in moderate penetrance genes make decisions to manage their increased risk of breast cancer. This study analyzed factors that may impact decision-making surrounding management for increased breast cancer risk. Women with a PV in a moderate penetrance gene associated with increased risk for breast cancer were identified from an institutional database. Semi-structured, qualitative interviews were conducted to analyze decision-making factors. Themes were developed using deductive codes based on previous literature and inductive codes based on interviewee responses. The 16 participants (mean age = 55.9 years) included 12 women with a breast cancer diagnosis. Six women (37.5%) chose bilateral mastectomy (BM), and 10 women (62.5%) chose surveillance as management. Of the 12 women with a personal history of breast cancer, four chose to have BM (33.3%). Two women without a personal history of breast cancer chose to have BM (50.0%). Transcriptions revealed seven comprehensive themes, as well as themes unique to affected and unaffected women (Cohen's kappa = 0.80). Physician opinion was the only factor present in all interviews reported to influence risk management decision-making. Several themes were consistent with prior BRCA1/BRCA2 research (family history, risk perception, sibling influence, and physician opinions). Autonomy and insurance/finances were also important factors to participants. There were certain differences in decision-making factors between affected and unaffected women, such as partner influence. Results indicate an opportunity for providers to engage their patients in a decision-making process.

Genetic testing for inherited cancer risk has recently improved through the advent of multi-gene panels and the addition of deletion and duplication analysis of the BRCA genes. The primary aim of this study was to determine which factors influence the intent of individuals with a personal history of breast and/or ovarian cancer and negative or uncertain BRCA1 and BRCA2 testing to return to a hereditary cancer program for additional genetic risk assessment, counseling, and testing. Surveys were sent to 1197 individuals and 257 were returned. Of those participants who were planning to return to clinic, most cited having family members who could benefit from the test result as the primary motivation to return. Many participants who were not planning to return to clinic cited the cost of testing as a barrier to return. Cost of testing and concerns about insurance coverage were the most commonly cited barriers for the group of participants who were undecided about returning to clinic. Results from this study may be used to guide re-contact efforts by clinicians to increase patient uptake to return to clinic for up-to-date genetic risk assessment, counseling, and testing.

Efforts are needed to increase awareness and improve communication about T2DM risk factors, familial risk, and risk reduction behaviors within families with a family history of T2DM. Family members with and without T2DM should be encouraged to communicate with their relatives about T2DM and the risk to family members. Identification of family members who can facilitate communication, education, and modeling of healthy behaviors may increase awareness and motivate at-risk individuals to engage in risk-reducing behaviors.

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